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The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.
Calcif Tissue Int
January 2025
Fondazione FIRMO Onlus, Italian Foundation for the Research On Bone Diseases, Florence, Italy.
Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood.
View Article and Find Full Text PDFA nosographic and etiopathogenetic framework for subchondral bone marrow lesions in the knee: A narrative review.
J Exp Orthop
January 2025
Service of Orthopaedics and Traumatology, Department of Surgery EOC Lugano Switzerland.
Purpose: Subchondral bone marrow lesions (BMLs) are present in a wide range of pathologies with different prognoses. Thus, a careful diagnosis is mandatory to address them with the proper treatment. The aim of this review was to examine BMLs aetiology and their relationship with biomechanical and biological factors, to identify BMLs and help clinicians to properly recognize and treat each of these common alterations.
View Article and Find Full Text PDFTooth loss, periodontal infection and their relationship to cognitive impairment and other dementias: A review.
Neuro Endocrinol Lett
December 2024
Private Practice, Zubná Pohotovosť, s.r.o. Bratislava, Krížna 44, Slovakia.
Our review study addresses the issue of tooth loss, which is caused by loss of masticatory function and its impact on cognitive functions, dementia, and Alzheimer's disease. Numerous studies have confirmed a positive correlation between premature tooth loss, reduction in masticatory function and significant cognitive decline observed through learning disabilities, including overcoming ordinary life problems to early and advanced forms of dementia. Reduced numbers of teeth in the main food processing area, i.
View Article and Find Full Text PDFFrom phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.
Eur J Pediatr
December 2024
Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Article Synopsis
- Genetic syndromes have been extensively studied for their clinical signs and underlying mechanisms, but gaps remain in understanding specific aspects like vocal production in conditions such as Cri du chat syndrome (CdCS).
- A study aimed to analyze the vocal characteristics of 29 CdCS patients aged 4 to 21 by recording their pronunciations of the vowels [a], [i], and [u], as well as counting from 1 to 10.
- Results showed notable differences in vocal qualities based on age and gender, with older males exhibiting the most pronounced roughness and asthenia, highlighting the link between voice production and biological or clinical traits.
[Deterioration of male reproductive function: methods and algorithms of etiopathogenetic and empirical treatment of the main clinical forms].
Urologiia
November 2024
Men's Health Clinic, University Clinic of Lomonosov Moscow State University and Department of Urology and Andrology, Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow, Russia.
In half of the cases, a decrease in the quantity and/or quality of spermatozoa is the cause of infertility. The pathogenesis of such disorders is multifactorial, often unknown, and data on the treatment efficiency are still contradictory. Based on the recent high-level evidences (randomized studies and meta-analyses), the real clinical efficiency of various surgical and conservative treatment methods for the main clinical forms of male reproductive dysfunction, including hypo- and hypergonadotropic hypogonadism, secretory and obstructive azoospermia, retrograde ejaculation and anejaculation, pathospermia associated with varicocele, and idiopathic forms, is analyzed.
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